Recently, while rushing into a conference room to give a talk to third-year students, I passed a man with a genetic disorder. Even at a glance, I knew exactly which disorder: he was about 35, had yellowish hair and pale skin, wore thick glasses and had nystagmus—wandering eye movements. It was clearly a form of oculo-cutaneous albinism (OCA), a group of inherited conditions resulting from the cell’s inability to produce pigment. Upon hearing him speak Spanish, I even knew which form of OCA it was, since Hermansky-Pudlak syndrome (HPS) is the most common genetic disorder in people from Puerto Rico.
In the brief seconds that our paths crossed, I wondered whether I should tell him about his diagnosis. I hesitated, though. After all, this guy wasn’t waiting for a consult. Should I tell him the adverse, potentially life-threatening consequences of HPS? That he probably has a bleeding disorder? That he’s destined to develop a debilitating form of lung disease that at best will leave him chronically short of breath and at worst might require a lung transplant? Or should I just leave well enough alone? After all, there was the possibility he already knew all this or had sought help. Was it my place to butt in?
This is the burden of the medical geneticist. We’re trained to examine external features, recognize patterns of abnormalities and assemble those patterns into diagnoses. Making a diagnosis is a real advantage in the clinic, but it’s not a skill you turn on in the hospital and turn off in the street. And so I wind up visually diagnosing Williams syndrome in the child walking through the mall with his mother, or Bardet Biedl syndrome in the daughter of one of my college roommates, or Hermansky-Pudlak syndrome in this man standing in the hall outside a conference room that I’m barreling toward. Yet I have never actually approached such individuals or their families about such diagnoses. I’ve never spoken to anyone aside from my patients. And it actually haunts me. Knowing the visual signs of disease can be a gift and a curse.
Even after 30 years of practicing medicine, I still haven’t figured out what I should do in these situations. It’s even more problematic when a diagnosis carries serious consequences: do I have an obligation to inform, or should I just mind my own business?
Instead of stopping to offer the Hispanic gentleman my card and asking him to call me, I proceeded through the door and launched into my lecture on genomic pediatrics. But I’m still thinking about him and the consequences of my inaction.
I really don’t know whether I did the right thing.